Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_assertion> ?p ?o ?g. }
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- NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_assertion type Assertion NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_head.
- NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_assertion description "[A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_provenance.
- NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_assertion evidence source_evidence_literature NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_provenance.
- NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_assertion SIO_000772 16679074 NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_provenance.
- NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_assertion wasDerivedFrom befree-20150227 NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_provenance.
- NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_assertion wasGeneratedBy ECO_0000203 NP540139.RAxpr46SYatvzG1rJ8oITH-7alQVlCVpIQFkCcnIjjr_s130_provenance.